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rs797045750

From SNPedia

ClinVar
Risk rs797045750(TGAA;TGAA)
Alt rs797045750(TGAA;TGAA)
Reference rs797045750(;)
Significance Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.36985676_36985679dupTGAA
CLNSRC
CLNACC RCV000193424.1,